COSMIC:
COSM3751747 (not active)
COSM3751748 (not active)
COSM3751749 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24550434 (EAS)
Genomes Max Group AF
0.23708285 (EAS)
Exomes Max Group AF
0.24539169 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.32925874A>G , CM000672.2:g.32925874A>G | GRCh38 |
| NC_000010.10:g.33214802A>G , CM000672.1:g.33214802A>G | GRCh37 |
| NC_000010.9:g.33254808A>G | NCBI36 |
| NG_029012.1:g.37492T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423113.6:c.783T>C | ENSP00000388694.1:p.Cys261= | |
| ENST00000302278.8:c.783T>C MANE Select | ENSP00000303351.3:p.Cys261= | |
| ENST00000417122.7:c.783T>C | ENSP00000404546.3:p.Cys261= | |
| ENST00000437302.6:c.783T>C | ENSP00000398029.2:p.Cys261= | |
| ENST00000474568.6:c.807T>C | ENSP00000420282.2:p.Cys269= | |
| ENST00000475184.6:n.961T>C | ||
| ENST00000488427.2:c.612T>C | ENSP00000417508.2:p.Cys204= | |
| ENST00000488494.6:c.792T>C | ENSP00000418725.2:p.Cys264= | |
| ENST00000609742.3:c.783T>C | ENSP00000503306.1:p.Cys261= | |
| ENST00000676460.1:c.783T>C | ENSP00000504641.1:p.Cys261= | |
| ENST00000676623.1:n.892T>C | ||
| ENST00000676659.1:c.783T>C | ENSP00000502979.1:p.Cys261= | |
| ENST00000676895.1:c.783T>C | ENSP00000504454.1:p.Cys261= | |
| ENST00000676964.1:c.612T>C | ENSP00000504267.1:p.Cys204= | |
| ENST00000677310.1:c.783T>C | ENSP00000504508.1:p.Cys261= | |
| ENST00000677363.1:c.807T>C | ENSP00000504791.1:p.Cys269= | |
| ENST00000677999.1:c.783T>C | ENSP00000503546.1:p.Cys261= | |
| ENST00000678120.1:c.783T>C | ENSP00000504784.1:p.Cys261= | |
| ENST00000678479.1:c.*589T>C | ENSP00000503110.1:n.*589T>C | |
| ENST00000678591.1:c.771T>C | ENSP00000502883.1:p.Cys257= | |
| ENST00000678701.1:c.783T>C | ENSP00000504205.1:p.Cys261= | |
| ENST00000678766.1:c.783T>C | ENSP00000503538.1:p.Cys261= | |
| ENST00000678943.1:c.783T>C | ENSP00000503916.1:p.Cys261= | |
| ENST00000678952.1:c.783T>C | ENSP00000504444.1:p.Cys261= | |
| ENST00000678989.1:c.783T>C | ENSP00000502882.1:p.Cys261= | |
| ENST00000679187.1:c.612T>C | ENSP00000504012.1:p.Cys204= | |
| ENST00000302278.7:c.783T>C | ENSP00000303351.3:p.Cys261= | |
| ENST00000396033.6:c.783T>C | ENSP00000379350.2:p.Cys261= | |
| ENST00000423113.5:c.783T>C | ENSP00000388694.1:p.Cys261= | |
| NM_002211.3:c.783T>C | NP_002202.2:p.Cys261= | |
| NM_033668.2:c.783T>C | NP_391988.1:p.Cys261= | |
| NM_133376.2:c.783T>C | NP_596867.1:p.Cys261= | |
| XM_005252448.1:c.783T>C | XP_005252505.1:p.Cys261= | |
| NM_002211.4:c.783T>C MANE Select | NP_002202.2:p.Cys261= | |
| NM_133376.3:c.783T>C | NP_596867.1:p.Cys261= |